Abstract: 　Objective　To explore the clinical features and gene mutation types of Cornelia de Lange syndrome (CdLS), an inherited metabolic disease. Methods　The clinical data and gene detection results of one case of CdLS were retrospectively analyzed. Results　Two-year-old male had special appearance, microcephaly, bushy eyebrows with both sides meeting in the midline, long curly eyelashes, low body mass, and motor and mental retardation. NIPBL gene detection found the variation of the nucleotide in c.7176T>A (nucleotide 7176 in coding region changed from T to A). Conclusions　CdLS is a rare congenital inherited metabolic disease. The clinical manifestations were special appearance and signs. The c.7176T>A mutation in NIPBL gene has not been reported at home and abroad.